CAJ | 학술논문

目的探讨降钙素受体基因C1377T单核苷酸多态性在山东半岛汉族人群中的分布规律及与原发性骨质疏松的关系.方法应用聚合酶链反应一限制性片段长度多态性方法 ,测定290名山东半岛汉族成年人和77名骨质疏松性骨折患者降钙素受体基因型并计算出基因型及等位基因频率;用双能X线吸收法测定腰椎和股骨近端的骨密度.比较不同基因型与各部位骨密度是否存在相关.结果本研究人群降钙素受体基因型频率分布均符合Hardy-Weinberg定律(χ~2=1.325,P＞0.05).367名受试人群基因型频率分布依次为CC型占88.6%,CT型占11.4%,TT型占0%.在将年龄和体质量指数进行校正后发现CC基因型较CT基因型在腰椎(P＜0.05)、wards三角(P＜0.05)有较高的骨密度.骨量正常组各基因型与骨质疏松性骨折组之间差异无统计学意义(χ~2=1.547,P＞0.05).结论 CC型是山东半岛汉族人群最常见的类型,降钙素受体基因型与腰椎、wards三角部位BMD有关联,CT型具有较低骨密度,提示CTR基因型C1377T多态性可能成为胶东半岛汉族人群发生骨质疏松危险性的遗传标志.
목적 탐토강개소수체기인C1377T단핵감산다태성재산동반도한족인군중적분포규률급여원발성골질소송적관계.방법 응용취합매련반응일한제성편단장도다태성방법 ,측정290명산동반도한족성년인화77명골질소송성골절환자강개소수체기인형병계산출기인형급등위기인빈솔;용쌍능X선흡수법측정요추화고골근단적골밀도.비교불동기인형여각부위골밀도시부존재상관.결과 본연구인군강개소수체기인형빈솔분포균부합Hardy-Weinberg정률(χ~2=1.325,P＞0.05).367명수시인군기인형빈솔분포의차위CC형점88.6%,CT형점11.4%,TT형점0%.재장년령화체질량지수진행교정후발현CC기인형교CT기인형재요추(P＜0.05)、wards삼각(P＜0.05)유교고적골밀도.골량정상조각기인형여골질소송성골절조지간차이무통계학의의(χ~2=1.547,P＞0.05).결론 CC형시산동반도한족인군최상견적류형,강개소수체기인형여요추、wards삼각부위BMD유관련,CT형구유교저골밀도,제시CTR기인형C1377T다태성가능성위효동반도한족인군발생골질소송위험성적유전표지.
Objective To investigte the regularity of single nucleetide polymorphism distribution of calcitonin receptor(CTR)gene C1377T polymorphism and the relationship between polymorphism of the calcitonin receptor gene and primary osteoperosis in ban nationality of Shandong penisula.Methods The ALU I polymorphism of calcitonin receptor gene was teated by polymerase chain reaction-restriction fragment length polymorphiam (PCR-RFLP)in 290 adults and 77 osteoporosis patients with osteopemtic fracture in Shandong peninsula for many years,and the distribution of CTR genotypes Wage calculated.Bone minerul density(BMD)of lumbar,femur neck,Wards and troch was measured by dual-energy X-ray absorptiometry.The relationship between BMD and polymorphism of CTR gene was analyzed.Results The frequencies distribution of Alu I alleles and genotypes in this cohoft followed the Hardy-Weinberg equilibriam(χ~2=1.325,P＞0.05).The frequency distribution of genotypes CC,CT and Tr was 88.6%,11.4%and 0%respectively.After body inass index and age were corrected.people with CC genotype had significantly higher BMD in comparison with CT genotype in lumbar(P＜0.05)and WaId8 triangle(P＜0.05).There was no significant difference between osteoporofic fracture group and normal control group(χ~2=1.547.P＞0.05).Condusion The most popular genotype in Han nationality of Shandong penisula is CC.It can be concluded that there is relationship between CTR geneotype and BMD in lumbar and Wards triangle area.The people with CT genotype have lower BMD.C1377T gene polymorphism may be used as a genetic marker in predicting the risk of developing ostooperosis in Han people of Shandong penisula.